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BGS Global Hospitals successfully performs surgery on patient with rare disease
• Alkaptonuria is a rare genetic metabolic disorder with global incidence of 1 in 2,50,000 • Unique surgical challenges overcome with expert team and innovative implant • Patient starts walking on second day post-surgery
By: Sandhya Prasad, BGS Global Hospitals
A male patient aged 57 years came to BGS Global Hospitals as he was unable to walk, was suffering from pain in the left leg for 3 to 4 years and complained of pain in the lower back. The movements of the back were restricted with very limited forward, backward and lateral bending. He was known to have diabetes with high blood pressure.
Radiological examination revealed that he had a rare genetic disorder called Alkaptonuria. There was complete destruction of cartilages and bones of the left hip joint. There was marked narrowing of disc space and calcium deposits in the spinal column between all vertebrae.
Dr. G. Mallinath, Orthopaedic and Joint Replacement Surgeon, BGS Global Hospitals said, “We decided to perform a hip replacement surgery for the left hip joint to mobilize him.”
Alkaptonuria (black urine disease) is a rare inherited genetic metabolic disorder. A person with alkaptonuria is unable to process the amino acids, phenylalanine and tyrosine. As a result, a toxic tyrosine byproduct called homogentisic acid or alkapton accumulates in the blood and is excreted in urine in large amounts. As large quantities are deposited in the connective tissues in the body they turn black.
Urine on exposure to light also turns black. Another distinctive characteristic is that ear wax exposed to air turns red or black after several hours. This patient had pigmentation in all parts of the body like the earlobe, palms, face, gums, cornea of the eye, etc.
Surgical challenges - Cardiac and hip replacement
Dr. Bharat Dubey, Consultant Cardiothoracic surgeon, BGS Global Hospitals stated, “Routine preoperative investigations revealed that he had an abnormal ECG and TMT, and an angiogram confirmed that he had three blocks in the heart vessels and a coronary artery bypass graft surgery had to be performed on priority. Because of his rare disease the blood vessels turned black on exposure to light in the operating theatre making it difficult to distinguish between a blocked artery and a healthy one. He recovered well after the successful surgery. ”
Dr. G. Mallinath said, “On recovery from the cardiac surgery, a total hip replacement surgery was performed on the patient after a month. Cartilages in the hip joint were black and this posed a challenge in differentiating between healthy and necrotic tissues during the surgery. A new kind of implant, Oxinium hip implant comprising of ceramic and metal alloy was used for better durability. The patient started walking on the second day itself, he is back on his feet and resumed work recently. Medical expertise available at BGS Global Hospitals made it possible for successfully performing this surgery.”
Incidence and symptoms of Alkaptonuria
Dr. N. K. Venkataramana, Vice-Chairman, BGS Global Hospitals said, "Alkaptonuria is an autosomal recessive condition. It arises in people who have inherited two mutant genes (abnormal HGD genes) one from each parent. The worldwide incidence of alkaptonuria is 1 in 2,50,000. In Slovakia the disease occurs in 1:19,000 people and it is also reported frequently in the Dominican Republic. There are fewer cases reported in India."
"The most affected organs because of this disease are the kidneys, heart and joints. Main symptoms which appear at a relatively young age include joint pain & back pain (because of cartilage damage), decreased range of motion of joints, arthritis, coronary artery disease, valvular heart disease, stones formation in kidneys and prostate (in men). No treatment for alkaptonuria is known however taking vitamin C supplements and a diet that is low in protein helps to some extent."
Other visible signs of the disease are pigmentation in nails and knuckles, darkened skin on sun exposed areas and around sweat glands, brown colored sweat, etc.
“Our strength lies in offering world-class services at an affordable price supported by state-of-the-
For more information, contact Sandhya Prasad, AGM-Corporate Communications, BGS Global Hospitals.
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About BGS Global Hospitals
The hospital is a 500 bedded tertiary care super specialty hospital with state-of-the-
Address: 67, Uttarahalli Main Road, Kengeri, Bangalore 560060, India.
URL: www.globalhospitalsindia.com. Ph: +91.80.2625.5555